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| Differences of Sex Development v0.27 | KLB |
Zornitza Stark gene: KLB was added gene: KLB was added to Disorders of Sex Differentiation. Sources: Literature Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLB were set to 28754744 Phenotypes for gene: KLB were set to Hypogonadotropic hypogonadism Review for gene: KLB was set to GREEN Added comment: Seven heterozygous loss‐of‐function KLB mutations in 13 individuals reported. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21. Functional analysis showed decreased activity in response to FGF21 and FGF8. KLB is an obligate coreceptor for FGF21 alongside FGFR1. Sources: Literature |
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| Differences of Sex Development v0.0 | FGF8 |
Zornitza Stark gene: FGF8 was added gene: FGF8 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGF8 was set to Unknown |
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